HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044398T>C , CM000672.2:g.114044398T>C | GRCh38 |
NC_000010.10:g.115804157T>C , CM000672.1:g.115804157T>C | GRCh37 |
NC_000010.9:g.115794147T>C | NCBI36 |
NG_012187.1:g.5352T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.266T>C MANE Select | ENSP00000358301.2:p.Leu89Pro | |
ENST00000369295.3:c.266T>C | ENSP00000358301.2:p.Leu89Pro | |
NM_000684.2:c.266T>C | NP_000675.1:p.Leu89Pro | |
NM_000684.3:c.266T>C MANE Select | NP_000675.1:p.Leu89Pro |